Y49D (p.Tyr49Asp) variant of DBH (Dopamine beta-hydroxylase)
Y49D (p.Tyr49Asp) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
Y49D (p.Tyr49Asp) variant details
- p.Tyr49Asp
- gnomAD 9-133636516-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.44
- MetaLR 0.26
- MetaSVM -0.54
- CADD 24.80
- PolyPhen-2 0.83
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available